Canonical Allele Identifier: CA427911926

Linked Data

MyVariant Identifiers: chr2:g.109524379C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108907923C>A , CM000664.2:g.108907923C>A GRCh38
NC_000002.11:g.109524379C>A , CM000664.1:g.109524379C>A GRCh37
NC_000002.10:g.108890811C>A NCBI36
NG_008257.1:g.86450G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.900G>T (EDAR) MANE Select ENSP00000258443.2:p.Leu300=
ENST00000258443.6:c.900G>T (EDAR) ENSP00000258443.2:p.Leu300=
ENST00000376651.1:c.996G>T (EDAR) ENSP00000365839.1:p.Leu332=
ENST00000409271.5:c.996G>T (EDAR) ENSP00000386371.1:p.Leu332=
NM_022336.3:c.900G>T (EDAR) NP_071731.1:p.Leu300=
XM_006712204.1:c.996G>T (EDAR) XP_006712267.1:p.Leu332=
XM_011510502.1:c.1047G>T (EDAR) XP_011508804.1:p.Leu349=
XM_011510503.1:c.951G>T (EDAR) XP_011508805.1:p.Leu317=
XM_011510504.1:c.327G>T (EDAR) XP_011508806.1:p.Leu109=
XM_011510502.2:c.1140G>T (EDAR) XP_011508804.2:p.Leu380=
XM_011510503.2:c.1044G>T (EDAR) XP_011508805.2:p.Leu348=
XM_017004623.2:c.8370+134877C>A (RANBP2) XP_016860112.1:n.8370+134877C>A
NM_022336.4:c.900G>T (EDAR) MANE Select NP_071731.1:p.Leu300=